{
    "disease_id": "DOID:0111264",
    "recommended_name": {
        "id": "DOID:0111264",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111264",
        "name": "Ruijs-Aalfs syndrome",
        "description": "A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111264",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111264",
            "name": "progeroid features-hepatocellular carcinoma predisposition syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014527",
            "name": "progeroid features-hepatocellular carcinoma predisposition syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014527",
            "name": "Ruijs-Aalfs syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014527",
            "name": "RJALS",
            "description": ""
        },
        {
            "id": "MONDO:0014527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014527",
            "name": "RUIJS-Aalfs syndrome",
            "description": ""
        },
        {
            "id": "MIM:616200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616200",
            "name": "Ruijs-Aalfs syndrome",
            "description": "Ruijs-Aalfs syndrome"
        }
    ]
}
